Rare lung diseases

Ewing sarcoma is an uncommon neoplasm considered in the differential diagnosis of tumors with "small round cell" morphology, but its occurrence in the gynecologic tract has only been sporadically documented. Herein, we describe the largest cohort of Ewing sarcoma localized to the female genital tract to date, and emphasize their clinicopathologic resemblance to more common gynecologic neoplasms. Ewing sarcoma (n=21) was retrospectively identified from 5 institutions. The average patient age was 35 (range 6-61) years...

PURPOSE: This report details the characteristics of a case of bilateral optic neuropathy during treatment with oral lorlatinib for ALK-positive metastatic adenocarcinoma of the lung. OBSERVATIONS: A 57-year-old woman with metastatic adenocarcinoma of the lung receiving treatment with lorlatinib presented to the ophthalmology urgent care with bilateral loss of vision that had progressed to no light perception over the previous 2 weeks. She was hospitalized for an extensive autoimmune, infectious, neoplastic, and paraneoplastic workup, which revealed enhancement of both optic nerves extending up to the optic chiasm and an area of restricted diffusion in the splenium of the corpus callosum on MRI...

BACKGROUND/AIM: Nuclear protein in testis (NUT) carcinoma is extremely rare, occurs in the midline of the body, progresses rapidly and is refractory to treatment; most patients die within a year. Here, we describe a case of maxillary sinus NUT carcinoma presenting with epistaxis and nasal obstruction that was treated as a standard head and neck carcinoma. CASE REPORT: The patient was a 41-year-old male with a left buccal swelling; the diagnosis was made of primary NUT carcinoma of the left maxillary sinus and bone metastasis in the cervical spine...

A775_G776insYVMA, the typical and predominant HER2 exon 20 insertion variant in non-small cell lung cancer, exhibits relative insensitivity to covalent HER2 -targeted tyrosine kinase inhibitors. However, other less common insertions have shown better responses to HER2 -targeted inhibitors. M774delinsWLV is a rare HER2 exon 20 insertion subtype and its clinical sensitivity to HER2 -targeted inhibitors remains unclear. Furthermore, there is a lack of current studies to elucidate its structure and predict its sensitivity to HER2 -targeted tyrosine kinase inhibitors...

Drug-induced lung injury (DILI) occurs when exposure to a drug leads to inflammation and, eventually, fibrosis of the lung interstitium. While DILI is a rare side effect of antipsychotic medication, once it manifests, it requires detailed investigation and prompt treatment. Diagnosing DILI can be challenging at times due to its similarity to conditions such as infectious diseases or interstitial pneumonia induced by other causes. We hereby report a fatal case of suspected DILI associated with olanzapine. A 61-year-old female with a history of delusional disorder was admitted to our hospital due to worsened psychiatric symptoms...

Nephropleural fistula, a rare complication of percutaneous nephrolithotomy (PCNL), occurred in a 45-year-old male with adult autosomal dominant polycystic kidney disease (ADPKD). The patient had undergone right PCNL in 2021 and 2023 and presented to the emergency department with symptoms of fever, breathlessness, and cough lasting one week. Imaging studies, including chest radiograph and contrast-enhanced computed tomography (CECT) of the abdomen and pelvis, revealed gross right pleural effusion, right perinephric abscess, multiple renal cysts, right renal calculi and right ureteric calculi causing severe right hydronephrosis and proximal hydroureter...

Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis, is a rare and potentially life-threatening autoimmune disease characterized by antineutrophil cytoplasmic antibody (ANCA)-associated vasculature inflammation. It presents as a systemic autoimmune disease with necrotizing granulomatous inflammation and pauci-immune small vessel vasculitis. This case initially posed a diagnostic challenge due to its atypical presentation and was misdiagnosed as hypersensitivity pneumonitis. The avian precipitin screening assay was positive in our patient, which may be consistent with bird breeder's lung disease or a non-specific reactivity of the chicken antigen test...

Echinococcus granulosus is the tapeworm that causes hydatidosis. The liver is the most frequently impacted region, although it can also affect the spleen, lung, and peritoneum. Dogs are the definite hosts, whereas humans are the unintentional accidental hosts. The peritoneum is an unusual site for hydatid cysts. We report the case of a 42-year-old male who had abdominal distension. A CT scan revealed hydatid cysts in the liver, spleen, and peritoneum. The patient was managed conservatively with albendazole and advised for surgical intervention and removal of daughter cysts...

BACKGROUND: Highly selective type Ib mesenchymal-epithelial transition gene (MET) tyrosine kinase inhibitors (TKIs) are the standard-of-care (SOC) therapy for previously untreated non-small cell lung cancer (NSCLC) harboring MET exon 14 (METex14) skipping mutations. However, there are rare reports describing effective regimens for patients who fail SOC without identifying resistant mutations or tissue transformation. CASE REPORT: We report the first case of a 74-year-old woman with lung adenocarcinoma (cT1cNxM0) harboring METex14 splice region mutation, which was identified by a next-generation sequencing (NGS)-based assay...

Periosteal Ewing sarcoma (ES) is an exceedingly rare topographic subtype of the ES. To our knowledge, only 60 patients have been reported in the medical English language literature. It predominantly affects men in the second decade of life and arises in the long tubular bone diaphysis. PES rarely develops distant metastases. We report two patients of this rare ES location that were found on the distal tibial shaft and proximal femoral diaphysis of a 21-year-old man and an 8-year-old boy, respectively. Both patients were treated with neoadjuvant chemotherapy, wide resection, and adjuvant chemotherapy...

Pulmonary sarcomatoid carcinoma (PSC) is a rare, poorly differentiated non-small cell lung cancer (NSCLC) that contains sarcomatoid components or sarcomatoid differentiation, and accounts for less than 1% of all lung tumors. Compared to other types of NSCLC, PSC has more invasive biological behavior, is prone to metastasis, and has a higher recurrence rate after early surgery. Its greater resistance to traditional treatments leads to a poorer prognosis compared to other NSCLCs. Immunotherapy offers the possibility of long-term survival for PSC patients...

Orbital and periocular metastatic tumors used to be considered very rare; however, with the constant updating of drugs and detection methods for cancer treatment, new chemotherapies and radiation treatments are being used. The life expectancy of cancer patients has become longer and periocular metastases are becoming easier to detect. Our knowledge of this rare disease of metastases also needs to be updated. This article reviews the incidence, symptomatic presentation, clinical features, diagnostic approaches and current treatment of metastatic tumors of the orbit and ocular adnexa in these patients...

In the United States, lung cancer is the second most common type of cancer with non-small cell lung cancer (NSCLC) encompassing around 85% of total lung cancer cases. Late-stage patients with metastatic disease have worsening prognosis, highlighting the importance of longitudinal disease monitoring. Liquid biopsy (LBx) represents a way for physicians to non-invasively track tumor analytes, such as circulating tumor cells (CTCs), and understand tumor progression in real-time through analyzing longitudinal blood samples...

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A 15-year-old boy presented with a sudden onset of breathlessness for 7 days, gradual loss of weight of 17.6 lbs over the last month and progressive hoarseness of voice for 7 months. The contrast-enhanced computed tomography (CECT) scan revealed a heterogeneously enhancing lesion in the anterior mediastinum with multiple discrete lymph nodes in the cervical and mediastinal locations. The GeneXpert MTB/RIF assay performed on the CT-guided biopsy of the mass was negative, but the culture for Mycobacterium tuberculosis was positive at 7 weeks of incubation...

We describe the case of a 45-year-old female affected by asthma and nasal polyposis who presented to the emergency department because of worsening dyspnea and paresthesia of the left lower limb. Comprehensive instrumental examinations revealed the presence of severe left ventricle dysfunction, intra-cardiac thrombus, deep vein thrombosis, pulmonary embolism, lung infiltrates, polyserositis, and neurological involvements. Finally, the patient was diagnosed with eosinophilic granulomatosis with polyangiitis (EGPA), formerly Churg-Strauss syndrome, a rare vasculitis of small-medium blood vessels with several organ involvements...

OBJECTIVES: Interferon (IFN)-induced lung injury is a rare but severe complication. Studies are needed to elucidate the demographic characteristics, clinical manifestations, and prognostic features of IFN-induced interstitial lung disease (ILD). CASE REPORT: We report a patient with chronic hepatitis who developed ILD after interferon monotherapy. To further clarify the clinical characteristics of such patients, we searched for cases in which lung injury was documented as a side effect of hepatitis treatment and systematically analyzed all case reports for clinical manifestations, type of treatment, and outcomes...

BACKGROUND: Cryoglobulinemia with pulmonary involvement is rare, and its characteristics, radiological findings, and outcomes are still poorly understood. METHODS: Ten patients with pulmonary involvement of 491 cryoglobulinemia patients at Peking Union Medical College Hospital were enrolled in this retrospective study. We analyzed the characteristics, radiological features and management of pulmonary involvement patients, and compared with those of non-pulmonary involvement with cryoglobulinemia...

Acute eosinophilic pneumonia (AEP) is a rare cause of acute respiratory failure. Clinical presentations can range from dyspnoea, fever and cough, to rapidly progressive and potentially fulminant respiratory failure. While its exact cause is often unknown, associations with inhalational injuries and exposures to new medications have been described.We report a case of a middle-aged, non-smoking man with a history of alcohol use disorder. He presented with 4 days of shortness of breath that started hours after taking injectable naltrexone (Vivitrol)...

BACKGROUND: Multidrug-resistant tuberculosis is a type of tuberculosis that is resistant to at least the first-line antituberculosis drugs namely, rifampicin and isoniazid. However, most of these studies were limited only to a single hospital. Therefore, this study aimed to identify the determinants of multidrug-resistant tuberculosis among adults undergoing treatment for tuberculosis in the Tigray region of Ethiopia. METHODS: Hospital-based unmatched case-control study was conducted from 1 April 2019 to 30 June 2019...